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Kallmann syndrome

ORPHA:478· ICD-10 E23.0

Definition

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
Age of onset
Adolescent, Childhood